Midfacial hypoplasia is a condition where the center of the face develops more slowly than other parts, causing features in the center to be smaller. In severe cases, it can affect appearance and health and may be a symptom of other health problems or genetic disorders. Treatment may involve surgery.
In midfacial hypoplasia, the center of the face develops more slowly than the eyes, forehead, and lower jaw. When mild, this is generally considered a harmless, normal genetic variation. In severe cases, however, the condition is so pronounced that both appearance and health can be affected. In these cases, hypoplasia is often a symptom of other health problems or genetic disorders.
Human genetics allows for infinite variations in facial construction. In individuals with mild benign midfacial hypoplasia, normal differences in appearance cause features in the center of the face to be smaller, in comparison, than features in the upper and lower faces. The effect is a forehead, lower jaw and eyes that appear unusually large. In more pronounced cases, the jaw may protrude forward noticeably and the eyes may appear bulging.
When midfacial hypoplasia is marked or easily identifiable at birth, it usually indicates a medical problem affecting the underlying structures of the face. In Crouzon syndrome, for example, the condition occurs when the plates of the skull fuse together before full growth of the skull is completed. Treatment for this genetic condition usually involves removing or breaking the bones in the skull.
Midfacial hypoplasia has also been associated with achondroplasia, the most common type of dwarfism. This disorder primarily affects the long bones of the legs and arms, but it can also lead to abnormal craniofacial development. In dwarfism, the extent of the hypoplasia is usually mild and requires intervention only when severe enough to cause complications.
Regardless of its cause, severe midfacial hypoplasia can often result in obstructive sleep apnea (OSA). Patients with OSA experience intermittent interruptions in breathing during sleep and often suffer from symptoms such as severe headache, insomnia and high blood pressure. Obstructive sleep apnea is most commonly treated by applying enough air pressure to keep the airways open via a continuous positive airway pressure (CPAP) machine that is worn by the patient while they sleep. For those patients who have dangerously long periods of not breathing, most other options are surgical. In jaw surgery, excess tissue in the airways is removed or a breathing tube is inserted directly into the throat.
Pronounced midfacial hypoplasia can also cause misalignment of the jaws and eyelids. In the former, the upper and lower jaws do not meet, causing difficulty with chewing and speech. Later, the eyelids are unable to close completely, and persistent dry eye and vision problems are common. Both conditions require plastic surgery to correct completely.
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